Hereditäre nicht-polypöse kolorektale Karzinome

Zusammenfassung

Etwa 20 – 25 % aller kolorektalen Karzinome treten familiär gehäuft auf. Bei 4 – 5 % ist die Familienanamnese positiv mit autosomal dominanter Vererbung. Erbliche kolorektale Karzinome sind grundsätzlich in adenomatöse, und die seltenen hyperplastischen, hamartomatösen bzw. juvenilen polypösen Erkrankungen zu differenzieren.

Familien mit hereditären nicht-polypösen kolorektalen Karzinomen (HNPCC; hereditary non-polyposis colorectal cancer) umfassen zwei Tumorentitäten. Zum einen Tumore mit Mikrosatelliteninstabilität und Keimbahnmutation in einem der DNA-Reparaturgene (MSI, Lynch-Syndrom) und zum anderen Tumore ohne Mikrosatelliteninstabilität (MSS). Familien mit Lynch-Syndrom weisen gegenüber Familien mit MSS-Tumoren zusätzliche assoziierte Tumorerkrankungen, ein früheres Erkrankungsalter und ein höheres Risiko für syn- und metachrone Zweitneoplasien auf.

Summary

Familial clusternig is found in 20–25% of all cases with colorectal cancer (CRC), 4–5% revealing autosomal dominant inheritance. Hereditary CRC develops from adenomatous, hyperplastic hamartomatous juvenile lesions. Hereditory nonpolyposis colorectal cancer includes two genetically different tumor entities, those with and without microsatellite instability in the corresponding tumors. Those with such instability and with germ-line mutation in DNA mismatch repair genes (Lynch syndrome) have additional neoplasms, an earlier age at onset and a higher risk for syn- and metachronous cancers.

Schlüsselwörter

erbliche kolorektale Karzinome - HNPCC - FAP - Polyposis

Key words

hereditary colorectal cancer - HNPCC - FAP - polyposis

Literatur

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